Linked Data
dbSNP Id:
rs1438290889
gnomAD v2:
2-241818218-T-G
gnomAD v3:
2-240878801-T-G
gnomAD v4:
2-240878801-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878801T>G , CM000664.2:g.240878801T>G | GRCh38 |
| NC_000002.11:g.241818218T>G , CM000664.1:g.241818218T>G | GRCh37 |
| NC_000002.10:g.241466891T>G | NCBI36 |
| NG_008005.1:g.15057T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.1159T>G MANE Select | ENSP00000302620.3:p.Cys387Gly | |
| ENST00000307503.3:c.1159T>G | ENSP00000302620.3:p.Cys387Gly | |
| ENST00000470255.1:n.937T>G | ||
| NM_000030.2:c.1159T>G | NP_000021.1:p.Cys387Gly | |
| NM_000030.3:c.1159T>G MANE Select | NP_000021.1:p.Cys387Gly |